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Autism Spectrum Disorder Phenotype Ontology
Last uploaded:
January 21, 2014
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| Preferred Name | Down Syndrome | |
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| Definitions |
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe mental retardation. |
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| ID |
http://cbmi.med.harvard.edu/asdphenotype#Class_181 |
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| definition |
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe mental retardation.
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| label |
Down Syndrome
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| prefixIRI |
asd:Class_181
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| prefLabel |
Down Syndrome
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